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mucopolysaccharidosis IV
Summary
- Synonym
-
- Mucopolysaccharidosis, MPS-IV
- deficiency of N-acetylgalactosamine-6-sulphatase
- deficiency of chondroitinsulphatase
- galactosamine-6-sulfatase deficiency
- Definition
- A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzymes galactose 6-sulfate sulfatase (Type A) or beta-galactosidase (Type B) needed to break down the keratan sulfate sugar chain.
- Super Class
- mucopolysaccharidosis
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 22901 | ARSG | arylsulfatase G | |
| 23169 | SLC35D1 | solute carrier family 35 member D1 | |
| 23443 | SLC35A3 | solute carrier family 35 member A3 | |
| 23583 | SMUG1 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | |
| 26229 | B3GAT3 | beta-1,3-glucuronyltransferase 3 | |
| 54187 | NANS | N-acetylneuraminate synthase | |
| 64131 | XYLT1 | xylosyltransferase 1 | |
| 79158 | GNPTAB | N-acetylglucosamine-1-phosphate transferase subunits alpha and beta | |
| 79796 | ALG9 | ALG9 alpha-1,2-mannosyltransferase | |
| 84572 | GNPTG | N-acetylglucosamine-1-phosphate transferase subunit gamma |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P05186 | Alkaline phosphatase, tissue-nonspecific isozyme | |
| P07741 | Adenine phosphoribosyltransferase | |
| P08236 | Beta-glucuronidase | |
| P10619 | Lysosomal protective protein | |
| P15289 | Arylsulfatase A | |
| P15586 | N-acetylglucosamine-6-sulfatase | |
| P15813 | Antigen-presenting glycoprotein CD1d | |
| P15848 | Arylsulfatase B | |
| P16112 | Aggrecan core protein | |
| P16278 | Beta-galactosidase |
